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<jats:p>Sarcoidosis is a highly variable, systemic granulomatous disease of hitherto unknown aetiology. The GenPhenReSa (Genotype–Phenotype Relationship in Sarcoidosis) project represents a European multicentre study to investigate the influence of genotype on disease phenotypes in sarcoidosis.</jats:p><jats:p>The baseline phenotype module of GenPhenReSa comprised 2163 Caucasian patients with sarcoidosis who were phenotyped at 31 study centres according to a standardised protocol.</jats:p><jats:p>From this module, we found that patients with acute onset were mainly female, young and of Scadding type I or II. Female patients showed a significantly higher frequency of eye and skin involvement, and complained more of fatigue. Based on multidimensional correspondence analysis and subsequent cluster analysis, patients could be clearly stratified into five distinct, yet undescribed, subgroups according to predominant organ involvement: 1) abdominal organ involvement, 2) ocular–cardiac–cutaneous–central nervous system disease involvement, 3) musculoskeletal–cutaneous involvement, 4) pulmonary and intrathoracic lymph node involvement, and 5) extrapulmonary involvement.</jats:p><jats:p>These five new clinical phenotypes will be useful to recruit homogenous cohorts in future biomedical studies.</jats:p>

Original publication

DOI

10.1183/13993003.00991-2017

Type

Journal article

Journal

European Respiratory Journal

Publisher

European Respiratory Society (ERS)

Publication Date

01/2018

Volume

51

Pages

1700991 - 1700991